9 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
(parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... Workup #Diagnosis #Geriatrics
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
MeralgiaParesthetica #MSK ... #pathophysiology ... #differential # ... diagnosis #signs
Diagram of different types of bone tumors that can occur around the knee on XRay
Age <
blade of grass sign ... Lesions #Bony #Differential ... Radiology #XRay #MSK ... #pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Diagnosis #Management #Endocrinology ... #Treatment #Pathophysiology
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
10-33% develop MS ... monophasic Pathophysiology ... • Bilateral signs ... Predictive of MS ... management #neurology #differential